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10.1186/s13256-025-05194-2 http://scihub22266oqcxt.onion/10.1186/s13256-025-05194-2 C11960019!11960019!40170114     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=40170114&cmd=llinks): Failed to open stream: HTTP request failed! 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A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature |pdf=|usr=}}{{40170114}} gab.com Text A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature JO: J Med Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=40170114 #FOAvip Background: Mutations in the MECOM gene have been recognized as a causative factor in MECOM-associated syndrome, which encompasses a spectrum of hematologic and extra-hematologic manifestations. Hematologic features range from isolated thrombocytopenia to severe bone marrow failure, while extra-hematologic manifestations may include skeletal, cardiac, renal, and other abnormalities. Here, we present a case of a Han Chinese newborn with a previously unreported variant in the MECOM gene. Case presentation: We report a 0-day-old female Han Chinese neonate who presented with severe thrombocytopenia and intracranial hemorrhage, ultimately succumbing to multiple organ failure and intracranial hemorrhage on the third day after birth. Genetic sequencing identified a heterozygous frameshift variant, c.157_158del, within the MECOM gene. This variant led to a substitution of the 53rd amino acid from methionine to glycine, terminating at the 54th amino acid. A comprehensive review of literature indicated that MECOM gene mutations included missense (68.3%), deletion (8.5%), splice site (8.5%), frameshift (7.3%), and nonsense (7.3%) mutations. Patients with missense mutations frequently exhibited radioulnar synostosis, while bone marrow failure was more commonly associated with the other four types of mutations. Conclusion: This study adds a novel variant of the MECOM gene to the current body of knowledge. In addition, we provide a comprehensive summary of previously reported cases. This case expands the phenotypic spectrum of MECOM variants and underscores the potential for rapid progression to a life-threatening condition. Supplementary Information: The online version contains supplementary material available at 10.1186/s13256-025-05194-2. Twit Text FOAVip A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature ????J Med Case Rep http://www.kidney.de/pget.php?&tw=1&pmid=40170114 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=40170114 #FOAvip English Wikipedia <ref>{{Cite pmid|40170114}}</ref> A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature #MMPMID40170114 Li J; Peng T; Cheng G; Yang L; Zhou J; Zhang R; Zhang P J Med Case Rep 2025[]; 19 (ä): ä PMID40170114show ga Background: Mutations in the MECOM gene have been recognized as a causative factor in MECOM-associated syndrome, which encompasses a spectrum of hematologic and extra-hematologic manifestations. Hematologic features range from isolated thrombocytopenia to severe bone marrow failure, while extra-hematologic manifestations may include skeletal, cardiac, renal, and other abnormalities. Here, we present a case of a Han Chinese newborn with a previously unreported variant in the MECOM gene. Case presentation: We report a 0-day-old female Han Chinese neonate who presented with severe thrombocytopenia and intracranial hemorrhage, ultimately succumbing to multiple organ failure and intracranial hemorrhage on the third day after birth. Genetic sequencing identified a heterozygous frameshift variant, c.157_158del, within the MECOM gene. This variant led to a substitution of the 53rd amino acid from methionine to glycine, terminating at the 54th amino acid. A comprehensive review of literature indicated that MECOM gene mutations included missense (68.3%), deletion (8.5%), splice site (8.5%), frameshift (7.3%), and nonsense (7.3%) mutations. Patients with missense mutations frequently exhibited radioulnar synostosis, while bone marrow failure was more commonly associated with the other four types of mutations. Conclusion: This study adds a novel variant of the MECOM gene to the current body of knowledge. In addition, we provide a comprehensive summary of previously reported cases. This case expands the phenotypic spectrum of MECOM variants and underscores the potential for rapid progression to a life-threatening condition. Supplementary Information: The online version contains supplementary material available at 10.1186/s13256-025-05194-2. äA novel MECOM gene variant causes severe thrombocytopenia in a neonate(epmc).pdf DeepDyve Pubget Overpricing